Extended Data Table 3: Genotype analysis for human TIM3 alleles in inflammatory bowel disease

From: CEACAM1 regulates TIM-3-mediated tolerance and exhaustion

Table 3
  1. a, Number of successfully genotyped German patients and controls and corresponding distribution of genotypes for the Thr101Ile missense variant in TIM3, including the genotype distribution in individuals of European descent (European Americans) downloaded from the Exome Variant Server (EVS), NHLBI GO Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). Genotyping 11 rare variants in TIM3, in a cohort of 5,634 inflammatory bowel disease and 3,940 control subjects, we observed homozygous rs147827860 (Thr101Ile) carriage exclusively in three IBD subjects (2 Crohn’s disease (CD) and 1 ulcerative colitis (UC)), but no control subjects which significantly deviated from Hardy–Weinberg equilibrium in IBD cases (P = 0.0033) but not controls (P = 1.00). b, Description of TIM3 single nucleotide polymorphisms (SNPs) analysed in cohorts described in a. c, Clinical data for the three patients found to be homozygous for the rs147827860 (Thr101Ile) variant.